S10A (p.Ser10Ala) variant of SLC12A2 (P55011)
S10A (p.Ser10Ala) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S10A (p.Ser10Ala) variant details
- p.Ser10Ala
- TOPMed rs1363346040
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.24
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 6.9e-05)
- Structural context available